Associated Papers
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Zhang X et al.
Seizure, 2024
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Muthaffar OY et al.
Biomedicines, 2023
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Luo S et al.
Frontiers in Molecular Neuroscience, 2023
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
Cattelani C et al.
International Journal of Molecular Sciences, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD et al.
Brain : a Journal of Neurology, 2022
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS et al.
Seizure, 2019
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.
Imaizumi T et al.
Intractable & Rare Diseases Research, 2018
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